Vanessa Vogel-Farley, Executive Director of Dup15q Alliance discusses her organization, which provides family support and promotes awareness, research and targeted treatments for chromosome 15q11.2-13.1 duplication syndrome.
Chromosome 15q11.2-13.1 duplication syndrome (dup15q syndrome) is a clinically identifiable syndrome which results from duplications of chromosome 15q11.2-13.1. These duplications most commonly occur in one of two forms. These include an extra isodicentric 15 chromosome, abbreviated idic(15), or an interstitial duplication 15, abbreviated int dup(15). When the extra genetic material comes from the paternal chromosome a child may have normal development. However, when the duplicated material comes from the maternal chromosome, developmental problems are often the result. In most cases of chromosome 15q11.2-13.1 duplication syndrome, the chromosome duplication is not inherited, but occurred as a random event during the formation of reproductive cells (eggs and sperm) or during early embroyonic development.